Product Details

SNP ID
rs202078352
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129911886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCTGGAGAAAGAGGAGCCAGCC[A/G]TTGCTCCCATTGAACATGTGCTCAG
Phenotype
MIM: 300508
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UTP14A PubMed Links

Gene Details

Gene
UTP14A
Gene Name
UTP14A small subunit processome component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166221.1 592 Intron NP_001159693.1
NM_006649.3 592 Missense Mutation ATT,GTT I168V NP_006640.2
XM_017029237.1 592 UTR 5 XP_016884726.1
XM_017029238.1 592 UTR 5 XP_016884727.1

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